Autosomal recessive infantile osteopetrosis

Case contributed by Dr Hisham Alwakkaa


Newborn at 37 weeks. Mother has a history of multiple stillbirths with congenital anomalies.

Patient Data

Age: 37 weeks
Gender: Female

There is diffuse increase of the bone density throughout the skeleton with loss of corticomedullary differentiation.

Case Discussion

This is a typical case of an infantile osteopetrosis, which is an autosomal recessive disease that affects the function of the osteoclasts resulting in bone overgrowth and loss of normal architecture. Although the bones are big, they are weak and brittle and patients usually develop fractures from minor trauma with poor healing process. This form is more severe compared to the autosomal dominant adult form with most affected children die in the early childhood.

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Case information

rID: 60279
Published: 15th May 2018
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included
Institution: Women and children Hospital of Buffalo

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